ODCs

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Autosomal dominant Robinow syndrome

1 OMIM reference -
1 associated gene
61 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Brachydactyly type B

1 OMIM reference -
1 associated gene
12 signs/symptoms

Autosomal dominant Robinow syndrome

Brachydactyly type B

WNT5A

(UniProt - OMIM)

ROR2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	WNT5A	(0.59)	ROR2

Citations in the biomedical literature:

Autosomal dominant Robinow syndrome		Brachydactyly type B

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm

Autosomal dominant Robinow syndrome		Brachydactyly type B
	Very frequent - Anteverted nares / nostrils - Broad nose / nasal bridge - Hypertelorism - Mesomelic micromelia - Micropenis / small penis / agenesis - Mid-facial hypoplasia / short / small midface - Short / small nose Frequent - Cleft lip and palate - Cleft / notched / bifid tongue - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Dental malocclusion - Depressed nasal bridge - Downturned mouth - Epicanthic folds - Euryblepharon / wide palpebral fissures - Frontal bossing / prominent forehead - High vaulted / narrow palate - Long philtrum - Long / thick / curved lashes / trichomegaly / polytrichia - Macrocephaly / macrocrania / megalocephaly / megacephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Pectus excavatum - Proptosis / exophthalmos - Short stature / dwarfism / nanism - Thickened / hypertrophic / fibromatous gingivae - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Upslanted palpebral fissures / mongoloid slanting palpebral fissures - Vertebral segmentation anomaly / hemivertebrae Occasional - Alopecia - Anodontia / oligodontia / hypodontia - Anus ectopia / anteposition / malposition - Blue sclerae - Camptodactyly of fingers - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Congenital cardiac anomaly / malformation / cardiopathy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Dysplastic / thick / grooved fingernails - Elbow dislocation - Exaggerated cupid bows - Hearing loss / hypoacusia / deafness - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Multicystic kidney / renal dysplasia - Pectus carinatum - Ptosis - Repeat respiratory infections - Sacral sinus / dimple - Scoliosis - Short neck - Short philtrum - Strabismus / squint - Supernumerary teeth / polyodontia		Very frequent - Absent / small fingernails / anonychia of hands - Distal phalangeal bones of toes hypoplasia / absence - Metacarpal anomalies / Archibald's sign - Short foot / brachydactyly of toes - Terminal / third phalangeal bone of fingers hypoplasia Occasional - Broad / bifid big toe - Broad / bifid thumb - Carpal bones fusion / synostosis - Symphalangy of fingers